Disrupted minor intron splicing is prevalent in Mendelian disorders.
Anouk M OlthofJeffrey S RasmussenPhilippe M CampeauRahul N KanadiaPublished in: Molecular genetics & genomic medicine (2020)
These findings highlight that disrupted minor intron splicing has a broader impact on human diseases than previously appreciated. The hope is that this knowledge will aid in the development of therapeutic strategies that incorporate the minor intron splicing pathway.